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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for PITPNA |
 Gene summary |
| Gene information | Gene symbol | PITPNA | Gene ID | 5306 |
| Gene name | phosphatidylinositol transfer protein alpha | |
| Synonyms | HEL-S-36|PI-TPalpha|PITPN|VIB1A | |
| Cytomap | 17p13.3 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol transfer protein alpha isoformPI-TP-alphaepididymis secretory protein Li 36ptdIns transfer protein alphaptdInsTP alpha | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PITPNA | GO:0015914 | phospholipid transport | 16274224|22822086 |
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Gene structures and expression levels for PITPNA |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000174238
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000576722.5 | PITPNA-210:protein_coding:PITPNA | 2.027718e+00 | 1.559349e+00 | 1.395077e-04 | 9.831884e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PITPNA |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_136938 | chr17 | 1553004:1553149:1558529:1558559:1562541:1562630 | 1558529:1558559 |
| exon_skip_190141 | chr17 | 1538869:1538952:1541566:1541640:1548296:1548387 | 1541566:1541640 |
| exon_skip_20421 | chr17 | 1553004:1553149:1558529:1558559:1562541:1562739 | 1558529:1558559 |
| exon_skip_211565 | chr17 | 1535441:1535518:1535785:1535841:1538869:1538952 | 1535785:1535841 |
| exon_skip_263072 | chr17 | 1520443:1520538:1521579:1521645:1534099:1534221 | 1521579:1521645 |
| exon_skip_295944 | chr17 | 1541566:1541640:1541642:1541649:1548296:1548387 | 1541642:1541649 |
| exon_skip_29956 | chr17 | 1520213:1520538:1521579:1521645:1534099:1534221 | 1521579:1521645 |
| exon_skip_354 | chr17 | 1548296:1548387:1553004:1553149:1558529:1558559 | 1553004:1553149 |
| exon_skip_35897 | chr17 | 1553121:1553149:1558529:1558559:1562541:1562739 | 1558529:1558559 |
| exon_skip_49510 | chr17 | 1538869:1538952:1541566:1541640:1543020:1543027 | 1541566:1541640 |
| exon_skip_56251 | chr17 | 1558529:1558559:1561199:1561281:1562541:1562630 | 1561199:1561281 |
| exon_skip_83402 | chr17 | 1541587:1541640:1543020:1543027:1548296:1548387 | 1543020:1543027 |
| exon_skip_90812 | chr17 | 1553047:1553149:1558529:1558559:1562541:1562630 | 1558529:1558559 |
| exon_skip_99138 | chr17 | 1541566:1541640:1543020:1543027:1548296:1548387 | 1543020:1543027 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for PITPNA |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000313486 | 1521579 | 1521645 | 5CDS-5UTR |
| ENST00000313486 | 1543020 | 1543027 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000313486 | 1521579 | 1521645 | 5CDS-5UTR |
| ENST00000313486 | 1543020 | 1543027 | Frame-shift |
| ENST00000313486 | 1553004 | 1553149 | Frame-shift |
| ENST00000313486 | 1541566 | 1541640 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PITPNA |
p-ENSG00000174238_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000313486 | 3929 | 270 | 1541566 | 1541640 | 554 | 627 | 99 | 123 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q00169 | 99 | 123 | 93 | 99 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1UW5 |
| Q00169 | 99 | 123 | 106 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1UW5 |
| Q00169 | 99 | 123 | 1 | 270 | Chain | ID=PRO_0000191639;Note=Phosphatidylinositol transfer protein alpha isoform |
| Q00169 | 99 | 123 | 101 | 103 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1UW5 |
| Q00169 | 99 | 123 | 123 | 126 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1UW5 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PITPNA |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for PITPNA |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for PITPNA |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PITPNA |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PITPNA |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_49510 | -4.026807e-01 | 1.424596e-07 |
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RelatedDrugs for PITPNA |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PITPNA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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